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    LTBP4 latent transforming growth factor beta binding protein 4 [ Homo sapiens (human) ]

    Gene ID: 8425, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LTBP4provided by HGNC
    Official Full Name
    latent transforming growth factor beta binding protein 4provided by HGNC
    Primary source
    HGNC:HGNC:6717
    See related
    Ensembl:ENSG00000090006 MIM:604710; AllianceGenome:HGNC:6717
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARCL1C; LTBP-4; LTBP4L; LTBP4S
    Summary
    The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
    Expression
    Broad expression in prostate (RPKM 61.4), endometrium (RPKM 53.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LTBP4 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40593166..40629820)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43413757..43450378)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41099072..41135725)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene spectrin beta, non-erythrocytic 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41029231-41029526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10635 Neighboring gene Sharpr-MPRA regulatory region 6117 Neighboring gene SH3KBP1 binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41108540-41109063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10639 Neighboring gene Sharpr-MPRA regulatory region 12022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41119811-41120358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41128498-41129138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41136805-41137395 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41142798-41142919 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41153389-41154370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10641 Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41194847-41195786 Neighboring gene NUMB like endocytic adaptor protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41196725-41197662 Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Latent transforming growth factor β-binding protein 4 is downregulated in esophageal cancer via promoter methylation. Bultmann I, et al. PLoS One, 2013. PMID 23741501, Free PMC Article
    2. Sequence and expression of a novel member (LTBP-4) of the family of latent transforming growth factor-beta binding proteins. Giltay R, et al. FEBS Lett, 1997 Jul 14. PMID 9271198
    3. Novel non-TGF-beta-binding splice variant of LTBP-4 in human cells and tissues provides means to decrease TGF-beta deposition. Koli K, et al. J Cell Sci, 2001 Aug. PMID 11683420
    4. Fibronectin and heparin binding domains of latent TGF-beta binding protein (LTBP)-4 mediate matrix targeting and cell adhesion. Kantola AK, et al. Exp Cell Res, 2008 Aug 1. PMID 18585707
    5. Independent regulation of short and long forms of latent TGF-beta binding protein (LTBP)-4 in cultured fibroblasts and human tissues. Kantola AK, et al. J Cell Physiol, 2010 Jun. PMID 20175115

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect of decreased expression of latent TGF-beta binding proteins 4 on the pathogenesis of emphysema as an age-related disease.
      Title: Effect of decreased expression of latent TGF-β binding proteins 4 on the pathogenesis of emphysema as an age-related disease.
    2. Novel indel variation of LTBP4 gene associates with risk of sudden cardiac death in Chinese populations with coronary artery disease.
      Title: Novel indel variation of LTBP4 gene associates with risk of sudden cardiac death in Chinese populations with coronary artery disease.
    3. LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
      Title: LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
    4. Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus.
      Title: Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus.
    5. Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber Assembly via LTBP4.
      Title: Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber Assembly via LTBP4.
    6. LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
      Title: LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
    7. Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
      Title: Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
    8. LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
      Title: LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
    9. Serum latent transforming growth factor-beta binding protein 4 as a novel biomarker for idiopathic pleuroparenchymal fibroelastosis.
      Title: Serum latent transforming growth factor-β binding protein 4 as a novel biomarker for idiopathic pleuroparenchymal fibroelastosis.
    10. Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
      Title: Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
    MedGen: C2750804 OMIM: 613177 GeneReviews: LTBP4-Related Cutis Laxa
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46318, FLJ90018

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables glycosaminoglycan binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables integrin binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transforming growth factor beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transforming growth factor beta receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in elastic fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in hormone secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein folding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell growth TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in microfibril ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    latent-transforming growth factor beta-binding protein 4
    Names
    latent transforming growth factor-beta binding protein 4L

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021201.1 RefSeqGene

      Range
      5001..41655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042544.1 → NP_001036009.1  latent-transforming growth factor beta-binding protein 4 isoform a precursor

      See identical proteins and their annotated locations for NP_001036009.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF051345, AK128191, BQ001109, Y13622
      Consensus CDS
      CCDS74369.1
      UniProtKB/Swiss-Prot
      O00508, O75412, O75413, Q8N2S1
      Related
      ENSP00000311905.8, ENST00000308370.11
      Conserved Domains (5) summary
      smart00179
      Location:878 → 914
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:671 → 708
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:418 → 453
      TB; TB domain
      pfam07645
      Location:752 → 792
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:567 → 590
      cEGF; Complement Clr-like EGF-like

    2. NM_001042545.2 → NP_001036010.1  latent-transforming growth factor beta-binding protein 4 isoform c precursor

      See identical proteins and their annotated locations for NP_001036010.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC010412, AF051344, AK128191, BQ001109, Y13622
      Consensus CDS
      CCDS74370.1
      UniProtKB/Swiss-Prot
      Q8N2S1
      UniProtKB/TrEMBL
      B3KXY6
      Related
      ENSP00000380031.5, ENST00000396819.8
      Conserved Domains (5) summary
      smart00179
      Location:811 → 847
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:604 → 641
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:351 → 386
      TB; TB domain
      pfam07645
      Location:685 → 725
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:500 → 523
      cEGF; Complement Clr-like EGF-like

    3. NM_003573.2 → NP_003564.2  latent-transforming growth factor beta-binding protein 4 isoform b

      See identical proteins and their annotated locations for NP_003564.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF051345, AK128191, BQ001109, Y13622
      Consensus CDS
      CCDS74368.1
      UniProtKB/TrEMBL
      A0A0C4DH07
      Related
      ENSP00000204005.10, ENST00000204005.13
      Conserved Domains (5) summary
      smart00179
      Location:841 → 877
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:634 → 671
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:381 → 416
      TB; TB domain
      pfam07645
      Location:715 → 755
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:530 → 553
      cEGF; Complement Clr-like EGF-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40593166..40629820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43413757..43450378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N2S1.2 GenPept UniProtKB/Swiss-Prot:Q8N2S1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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